TABLE 1.

Reported mutations in MAP3K1 gene

DNA change	Protein change	Number of patients	Reference
c.634‐8T>A	—	10	Pearlman et al. (2010)
c.1846G>A	p.Gly616Arg	5
c.566T>G	p.Leu189Pro	2
c.2416G>A	p.D806N	4	Das et al. (2013)
c.3084A>G	p.Q1028Q	1
c. 1284G>A	p.T428T	1
c. 2822_2824insCAA	p. 942insT	2
c.458C>T	p.Pro153Leu	1	Loke et al. (2014)
c.2180‐2A>G	p.Gly727_Ile761del	1
c.1846G>A	p.(Gly616Arg)	2	Baxter et al. (2015)
c.1016G>A	p.(Arg339Gln)	1
c.770C>T	p.(Pro257Leu)	1
c.566T>G	p.(Leu189Arg)	2	Eggers et al. (2016)
c.2071T>C	p.(Cys691Arg)	1
c.4328C>T	p.(Ala1443Val)	2
c.934A>T	p.(Met312Leu)	4
c.710A>G	p.(Gln237Arg)	1
c.394G>C	p.(Asp132His)	1
c.14_16insCGG	p.(Ala5dup)	2	Granados et al. (2017)
c.1760T>A	p.(Leu587His)	2
c.566T>A	p.(Leu189Gln)	1
c.2291T>G	p.(Leu764Arg)	1
c.2072G>A	p.(Cys691Tyr)	2	Kopylova IV et al. (2018)
c.2858_2872del CAACAACAACAACAA	p.944_948del	1
c.2117T>G	p.(L706R)	1	Xue et al. (2019)
c.1970C>G	p.(Thr657Arg)	3	Current report Chamberlin et al. (2019)a

^aOur mutation is tested to be pathogenic as per this study.